European Journal of Human Genetics - Table of Contents alert Volume 25 Issue n7

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TABLE OF CONTENTS Volume 25, Issue 7 (June 2017) In this issue Viewpoint Letters Articles Short Reports Clinical Utility Gene Cards Clinical Utility Gene Cards Update Book Reviews Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement New web focus: Returning results in genetics The great strides in diagnostic and research technology have had a tremendous impact on genetic services. Notably the advent of Next Generation Sequencing has enabled genetics professionals to be of much more help to patients and caretakers than in the early years of DNA diagnostics... Read more and access articles selected by our Editor-in-Chief >>>   Viewpoint Top Uninformed consent in nutrigenomic research A Cecile JW Janssens, Eline M Bunnik, Wylie Burke and Maartje HN Schermer Eur J Hum Genet 2017 25: 789-790; advance online publication, May 10, 2017; 10.1038/ejhg.2017.63 Abstract | Full Text Letters Top UK National Screening Committee Criteria: clarification of two misunderstandings Anne Mackie Eur J Hum Genet 2017 25: 791; advance online publication, April 26, 2017; 10.1038/ejhg.2017.56 Full Text Reply to A Mackie Marleen Jansen Eur J Hum Genet 2017 25: 791; advance online publication, April 26, 2017; 10.1038/ejhg.2017.68 Full Text Articles Top Expanded carrier screening: what determines intended participation and can this be influenced by message framing and narrative information? Jan S Voorwinden, Anne H Buitenhuis, Erwin Birnie, Anneke M Lucassen, Marian A Verkerk, Irene M van Langen, Mirjam Plantinga and Adelita V Ranchor Eur J Hum Genet 2017 25: 793-800; advance online publication, May 3, 2017; 10.1038/ejhg.2017.74 Abstract | Full Text Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey Iris Jaitovich Groisman, Thierry Hurlimann, Amir Shoham and Béatrice Godard Eur J Hum Genet 2017 25: 801-808; advance online publication, May 10, 2017; 10.1038/ejhg.2017.64 Abstract | Full Text Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy Charlotte Burns, Laura Yeates, Catherine Spinks, Christopher Semsarian and Jodie Ingles Eur J Hum Genet 2017 25: 809-815; advance online publication, May 3, 2017; 10.1038/ejhg.2017.66 Abstract | Full Text The RUDY study: using digital technologies to enable a research partnershipEJHGOPEN Harriet J A Teare, Joanna Hogg, Jane Kaye, Raashid Luqmani, Elaine Rush, Alison Turner, Laura Watts, Melanie Williams and M Kassim Javaid Eur J Hum Genet 2017 25: 816-822; advance online publication, April 26, 2017; 10.1038/ejhg.2017.57 Abstract | Full Text Genotype and phenotype spectrum of NRAS germline variants Franziska Altmüller, Christina Lissewski, Debora Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger, Gareth Baynam, Michelle Buscarilli, Sarah Dyack, Jane Gillis, Helger G Yntema, Francesca Pantaleoni, Rosa LE van Loon, Sara MacKay, Kym Mina, Ina Schanze, Tiong Yang Tan, Maie Walsh, Susan M White, Marena R Niewisch, Sixto García-Miñaúr, Diego Plaza, Mohammad Reza Ahmadian, Hélène Cavé, Marco Tartaglia and Martin Zenker Eur J Hum Genet 2017 25: 823-831; advance online publication, May 3, 2017; 10.1038/ejhg.2017.65 Abstract | Full Text Comparison of the efficiency of colorectal cancer screening programs based on age and genetic risk for reduction of colorectal cancer mortality Oliver Stanesby and Mark Jenkins Eur J Hum Genet 2017 25: 832-838; advance online publication, May 10, 2017; 10.1038/ejhg.2017.60 Abstract | Full Text Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variantsEJHGOPEN Emmanuelle Souzeau, Owen M Siggs, Tiger Zhou, Anna Galanopoulos, Trevor Hodson, Deepa Taranath, Richard A Mills, John Landers, John Pater, James E Smith, James E Elder, Julian L Rait, Paul Giles, Vivek Phakey, Sandra E Staffieri, Lisa S Kearns, Andrew Dubowsky, David A Mackey, Alex W Hewitt, Jonathan B Ruddle, Kathryn P Burdon and Jamie E Craig Eur J Hum Genet 2017 25: 839-847; advance online publication, May 3, 2017; 10.1038/ejhg.2017.59 Abstract | Full Text A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers Joakim Klar, Zafar Ali, Muhammad Farooq, Kamal Khan, Johan Wikström, Maria Iqbal, Shumaila Zulfiqar, Sanam Faryal, Shahid Mahmood Baig and Niklas Dahl Eur J Hum Genet 2017 25: 848-853; advance online publication, May 10, 2017; 10.1038/ejhg.2017.54 Abstract | Full Text A comparison of Cox and logistic regression for use in genome-wide association studies of cohort and case-cohort designEJHGOPEN James R Staley, Edmund Jones, Stephen Kaptoge, Adam S Butterworth, Michael J Sweeting, Angela M Wood and Joanna M M Howson on behalf of the EPIC-CVD Consortium Eur J Hum Genet 2017 25: 854-862; advance online publication, May 3, 2017; 10.1038/ejhg.2017.78 Abstract | Full Text Gene-set analysis shows association between FMRP targets and autism spectrum disorder Arija Jansen, Gwen C Dieleman, August B Smit, Matthijs Verhage, Frank C Verhulst, Tinca J C Polderman and Danielle Posthuma Eur J Hum Genet 2017 25: 863-868; advance online publication, April 19, 2017; 10.1038/ejhg.2017.55 Abstract | Full Text Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panelEJHGOPEN Mario Mitt, Mart Kals, Kalle Pärn, Stacey B Gabriel, Eric S Lander, Aarno Palotie, Samuli Ripatti, Andrew P Morris, Andres Metspalu, Tõnu Esko, Reedik Mägi and Priit Palta Eur J Hum Genet 2017 25: 869-876; advance online publication, April 12, 2017; 10.1038/ejhg.2017.51 Abstract | Full Text Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study Ilja M Nolte, Peter J van der Most, Behrooz Z Alizadeh, Paul IW de Bakker, H Marike Boezen, Marcel Bruinenberg, Lude Franke, Pim van der Harst, Gerjan Navis, Dirkje S Postma, Marianne G Rots, Ronald P Stolk, Morris A Swertz, Bruce HR Wolffenbuttel, Cisca Wijmenga and Harold Snieder Eur J Hum Genet 2017 25: 877-885; advance online publication, April 12, 2017; 10.1038/ejhg.2017.50 Abstract | Full Text Short Reports Top Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype Debby M E I Hellebrekers, Suzanne C E H Sallevelt, Tom E J Theunissen, Alexandra T M Hendrickx, Ralph W Gottschalk, Janneke G J Hoeijmakers, Daphna D Habets, Jörgen Bierau, Kees G Schoonderwoerd and Hubert J M Smeets Eur J Hum Genet 2017 25: 886-888; advance online publication, April 26, 2017; 10.1038/ejhg.2017.62 Abstract | Full Text Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID Silke Redler, Tim M Strom, Thomas Wieland, Kirsten Cremer, Hartmut Engels, Felix Distelmaier, Jörg Schaper, Alma Küchler, Johannes R Lemke, Stephanie Jeschke, Nicole Schreyer, Heinrich Sticht, Margarete Koch, Hermann-Josef Lüdecke and Dagmar Wieczorek Eur J Hum Genet 2017 25: 889-893; advance online publication, April 19, 2017; 10.1038/ejhg.2017.52 Abstract | Full Text Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data Epi4K Consortium, EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome Project Eur J Hum Genet 2017 25: 894-899; advance online publication, May 17, 2017; 10.1038/ejhg.2017.61 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Tangier disease Amanda J Hooper, Sally P A McCormick, Robert A Hegele and John R Burnett Eur J Hum Genet 2017 25: e1-e3; advance online publication, May 24, 2017; 10.1038/ejhg.2017.72 Full Text Clinical Utility Gene Cards Update Top Clinical utility gene card for: Fabry disease – update 2016 Andreas Gal, Michael Beck, Wolfgang Höppner and Dominique P Germain Eur J Hum Genet 2017 25: e1-e3; advance online publication, March 22, 2017; 10.1038/ejhg.2017.17 Full Text Book Reviews Top ‘Genetic Disorders and the Fetus – Diagnosis, Prevention, And Treatment’ Judith G Hall Eur J Hum Genet 2017 25: 901; 10.1038/ejhg.2017.67 Full Text The Scientist's Guide to Writing—How to Write More Easily and Effectively throughout Your Scientific Career Christopher Geoffrey Woods Eur J Hum Genet 2017 25: 901; 10.1038/ejhg.2017.58 Full Text Thorough discussion of cancer research—thoughts against the main stream Thomas Liehr Eur J Hum Genet 2017 25: 0-903; 10.1038/ejhg.2017.7 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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